Rare Diseases & Orphan Drugs

Advancements in the Diagnosis of Rare Diseases

Recent advancements in medical technology, such as genetic testing and next-generation sequencing, have significantly improved the diagnosis of rare diseases. These technologies can identify changes in an individual's DNA that may be responsible for causing a rare disease and provide valuable information about the genetic mutations underlying rare diseases. Additionally, new imaging technologies, such as MRI and CT scans, provide doctors with a more detailed view of the body's internal structures and can help diagnose rare diseases more accurately. These advancements have improved the accuracy and reduced the time it takes to diagnose rare diseases, allowing people to receive appropriate treatment and care much earlier, improving their quality of life and overall prognosis.